ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2230G>C (p.Glu744Gln)

gnomAD frequency: 0.00104  dbSNP: rs2912840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946104 SCV001092201 likely benign Familial acute necrotizing encephalopathy 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001567944 SCV001791720 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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